Congenital myopathies in Israeli families.

The clinical features of 37 patients from 32 Israeli families with congenital myopathies evaluated between 1983 and 2004 are described: 13 children were diagnosed with congenital fiber type disproportion, 10 had myotubular myopathy, 7 had nemaline myopathy, 5 had central core disease, 1 had actin myopathy, and 1 had multi-minicore disease. There were 7 families (22%) that had parental consanguinity, and 4 families (12%) had more than 1 patient with congenital myopathy. Of the patients, 31 (84%) presented with clinical symptoms before 4 months of age, and 6 children (16%) presented after 1 year of age.

Pediatric-onset gelastic seizures: clinical data and outcome.

Gelastic seizures are an extremely rare form of epilepsy defined as automatic bouts of laughter without mirth commonly associated with a hypothalamic hamartoma. The objective was to survey all Israeli children found to develop recurrent gelastic seizures and report presenting symptoms, electroencephalographic and radiologic data, and response to either antiepileptic drugs or surgery. Ten children who developed gelastic seizures at the age of 1 week to 6.

Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred.

Five infants of a Moslem-Arab extended family were evaluated for common and characteristic clinical findings of failure to thrive, extreme muscle weakness, severe motor delay, and moderate to severe cognitive and verbal delay. All children were below the third percentile in weight and height, and three of them had head circumference below the third percentile. Neurologic examination revealed severe hypotonia, muscle weakness, and absent deep tendon reflexes.

Thrombophilia: a risk factor for cerebral palsy?

Background: The cause of cerebral palsy remains unknown in most cases. Factor V Leiden mutation, a common cause of hereditary thrombophilia, has been associated with CP.

Objectives: To analyze the prevalence of factor V Leiden (G1691A), prothrombin (G20210A), and methylenetetrahydrofolate reductase (C677T) mutations in children with CP.